Key words: GM2 gangliosidosis; Cherry red spot; Sandhoff disease; Developmental delay. Advertisement American Journal of Preventive Medicine and Public Health SUBMIT YOUR ARTICLE NOW [scopemed.org]

This case report is of a 13-month-old aboriginal Canadian boy who was referred for further investigations related to global developmental delay and loss of developmental milestones, at which time the diagnosis was discovered. [ajol.info]

Arvinda First published August 1, 2011, DOI: A 1-year-old girl, whose parents were second cousins, presented with developmental delay and regression of milestones. She had macrocephaly, generalized hypotonia, brisk reflexes, and hepatosplenomegaly. [neurology.org]

Initially many parents notice developmental delays but pediatricians often dismiss these concerns by stating "every baby develops differently" and "the baby will catch up". Often at about 10-14 months of age, children may start to exhibit trouble tracking [ntsad.org]

Google Scholar Crossref Medline Filippi CG, Ulug AM, Deck MD, et al: Developmental delay in children: Assessment with proton MR spectroscopy. AJNR Am J Neuroradiol 2002 ;23: 882 — 888. Google Scholar Medline ISI [doi.org]

: Sandhoff disease in Turkish population. Brain Dev 1997 ; 19: 469 - 472. [doi.org]

To better understand the severity of the Turkish HEXA mutation, we reproduced the 12 bp deletion mutation (1267–1278) in the β-subunit cDNA. [dr-dn.nrc-cnrc.gc.ca]

To better understand the severity of the Turkish HEXA mutation, we reproduced the 12 bp deletion mutation (1267-1278) in the β-subunit cDNA. [link.springer.com]

Death in infancy G454D, exon 12 Turkish Death in infancy R178H, exon 5 Northern Portuguese and unrelated Europeans in Mediterranean region B1 variant, severe late infantile (heterozygous with mRNA negative mutation or severe juvenile (homoallelic) R178L [emedicine.medscape.com]

Four patients were of Italian origin, 5 were Argentineans, 2 Brazilians, 1 Turkish, 1 Bulgarian and 1 Chinese. [journals.plos.org]

Enzyme analysis showed deficient total hexosaminidase (A B) enzyme in plasma ( 1 Progressive systemic accumulation of sphingolipids leads to macrocephaly, cherry-red spots in the eye, skeletal dysostosis and organomegaly. 2 It is unusual to see microcephaly [casereports.bmj.com]

Three clinical sub-types of GM1 gangliosidosis are recognized, classified by age of onset, as follows: Infantile (type 1) : In the most common infantile form, coarse facial features, hepatosplenomegaly, generalized skeletal dysplasia (dysostosis multiplex [centogene.com]

193530 E VC2 4p16.2 Ellis-van Creveld syndrome 225500 Weyers acrofacial dysostosis 193530 F8 Xq28 Hemophilia A 306700 F9 Xq27.1 Hemophilia B 306900 Thrombophilia, X-linked, due to factor IX defect 300807 Deep venous thrombosis, protection against 300807 [institutobernabeu.com]

In the absence of familial small head size or significant malnutrition, it is intriguing to see microcephaly in association with Sandhoff's disease. [casereports.bmj.com]

Besides the classical neurological features, this patient exhibited severe mitral regurgitation secondary to mitral valve prolapse and mild aortic regurgitation from aortic valve prolapse. [ncbi.nlm.nih.gov]

Besides the classical neurological features, this patient exhibited severe mitral regurgitation secondary to mitral valve prolapse and mild aortic regurgitation from aortic valve prolapse. [ncbi.nlm.nih.gov]

We describe a 14-month-old female baby who exhibited mitral regurgitation and cardiomegaly at the age of 2months, dilation of the left atrium and left ventricle at age of 6months, followed by regression of developmental milestones after an episode of [ncbi.nlm.nih.gov]

Batten disease バッテン病 Frederick Eustace Batten（1865-1918） English neurologist and pediatrician Battle バトル Battle's sign バトル徴候 William HenryBattle （1856-1936） English surgeon Bauhin バウヒン Bauhin's valve バウヒン弁 Bayes ベイズ Bayes theorem ベイズの定理 Bazin バザン Bazin's erythema [jams.med.or.jp]

In the absence of familial small head size or significant malnutrition, it is intriguing to see microcephaly in association with Sandhoff's disease. [casereports.bmj.com]

He also had hyperacusis, bilateral cherry-red spot, generalised hypotonia, brisk muscle stretch reflexes, bilateral Babinski’s sign and no organomegaly. [casereports.bmj.com]

Hyperacusis (ie, persistent extension response to sound, startle reaction) can aid in early diagnosis. After age 8-10 months, deterioration is rapid as neurodegeneration progresses. [emedicine.medscape.com]

He also had hyperacusis, bilateral cherry-red spot, generalised hypotonia, brisk muscle stretch reflexes, bilateral Babinski’s sign and no organomegaly. [casereports.bmj.com]

Firm stroking of the sole of the foot produces a typical reflex response (Babinski sign), and the outer toes spread after the side of the sole of the foot has been stroked. [rarediseases.org]

Abstract We report a rare case of inherited metabolic disease wherein one and half year old girl child born to a consanguinously married couple, presented to emergency ward with a history of one episode of generalized tonic clonic convulsion lasting for [scopemed.org]

She had regression of her milestones and generalized convulsions; her ophthalmological examination also revealed “cherry red spots.” She died at 17 months of age. His three other sisters were well. [neurologyindia.com]

This approach emphasizes the importance of looking at the other functional impacts of these manifestations (e.g. cognitive deficits secondary to depression, orthodopaedic ambulation issues). [books.google.com]

A fourteen-year-old girl presented to our department with a history of two episodes of generalized tonic clonic seizures in the last 3 months. She was born to a nonconsanguineous parents in a hospital. [indianpediatrics.net]